ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85091G>A (p.Arg28364Gln)

gnomAD frequency: 0.00015  dbSNP: rs376283153
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704923 SCV000237661 likely benign not provided 2020-03-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000529144 SCV000643795 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001704923 SCV003825478 uncertain significance not provided 2019-12-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001704923 SCV004225798 uncertain significance not provided 2022-02-14 criteria provided, single submitter clinical testing BP4
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005404361 SCV006067736 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing

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